Rare diseases

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.

Rare Diseases by name

Name
ARIMA SYNDROME	View info
AROMATASE DEFICIENCY	View info
AROMATASE EXCESS SYNDROME; AEXS	View info
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	View info
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10	View info
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13	View info
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1	View info
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2	View info
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9	View info
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1	View info
ARTERIAL TORTUOSITY SYNDROME; ATS	View info
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY	View info
ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A	View info
ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3	View info
ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5	View info
ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D	View info
ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7	View info
ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9	View info
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT	View info
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS	View info

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